Skip to main content
NCBI home page
Proceedings of the Royal Society of Medicine logoLink to Proceedings of the Royal Society of Medicine
. 1971 Nov;64(11):1137–1139. doi: 10.1177/003591577106401109

Antenatal detection of genetic enzyme defects.

P F Benson
PMCID: PMC1812050  PMID: 5003264

Full text

PDF
1137

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Benson P. F., Bowser-Riley F., Giannelli F. Beta-galactosidases in fibroblasts: Hurler and Sanfilippo syndromes. N Engl J Med. 1970 Oct 29;283(18):999–1000. doi: 10.1056/nejm197010292831818. [DOI] [PubMed] [Google Scholar]
  2. Boyle J. A., Raivio K. O., Astrin K. H., Schulman J. D., Graf M. L., Seegmiller J. E., Jacobsen C. B. Lesch-Nyhan syndrome: preventive control by prenatal diagnosis. Science. 1970 Aug 14;169(3946):688–689. doi: 10.1126/science.169.3946.688. [DOI] [PubMed] [Google Scholar]
  3. Cathro D. M., Bertrand J., Coyle M. G. Antenatal diagnosis of adrenocortical hyperplasia. Lancet. 1969 May 31;1(7605):1099–1099. doi: 10.1016/s0140-6736(69)91735-8. [DOI] [PubMed] [Google Scholar]
  4. Dancis J. The antepartum diagnosis of genetic diseases. J Pediatr. 1968 Feb;72(2):301–302. doi: 10.1016/s0022-3476(68)80331-2. [DOI] [PubMed] [Google Scholar]
  5. Danes B. S., Bearn A. G. Cellular metachromasia, a genetic marker for studying the mucopolysaccharidoses. Lancet. 1967 Feb 4;1(7484):241–243. doi: 10.1016/s0140-6736(67)91302-5. [DOI] [PubMed] [Google Scholar]
  6. DeMars R., Sarto G., Felix J. S., Benke P. Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells. Science. 1969 Jun 13;164(3885):1303–1305. doi: 10.1126/science.164.3885.1303. [DOI] [PubMed] [Google Scholar]
  7. Fratantoni J. C., Neufeld E. F., Uhlendorf B. W., Jacobson C. B. Intrauterine diagnosis of the hurler and hunter syndromes. N Engl J Med. 1969 Mar 27;280(13):686–688. doi: 10.1056/NEJM196903272801303. [DOI] [PubMed] [Google Scholar]
  8. Fujimoto W. Y., Seegmiller J. E., Uhlendorf B. W., Jacobson C. B. Biochemical diagnosis of an X-linked disease in utero. Lancet. 1968 Aug 31;2(7566):511–512. doi: 10.1016/s0140-6736(68)90671-5. [DOI] [PubMed] [Google Scholar]
  9. Ho M. W., O'Brien J. S. Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme. Science. 1969 Aug 8;165(3893):611–613. doi: 10.1126/science.165.3893.611. [DOI] [PubMed] [Google Scholar]
  10. Jeffcoate T. N., Fliegner J. R., Russell S. H., Davis J. C., Wade A. P. Diagnosis of the adrenogenital syndrome before birth. Lancet. 1965 Sep 18;2(7412):553–555. doi: 10.1016/s0140-6736(65)90864-0. [DOI] [PubMed] [Google Scholar]
  11. Justice P., Ryan C., Hsia D. Y., Krmpotik E. Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease. Biochem Biophys Res Commun. 1970 May 11;39(3):301–306. doi: 10.1016/0006-291x(70)90576-0. [DOI] [PubMed] [Google Scholar]
  12. Justice P., Ryan C., Hsia D. Y., Krmpotik E. Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease. Biochem Biophys Res Commun. 1970 May 11;39(3):301–306. doi: 10.1016/0006-291x(70)90576-0. [DOI] [PubMed] [Google Scholar]
  13. Marrow G., 3rd, Schwarz R. H., Hallock J. A., Barness L. A. Prenatal detection of methylmalonic acidemia. J Pediatr. 1970 Jul;77(1):120–123. doi: 10.1016/s0022-3476(70)80054-3. [DOI] [PubMed] [Google Scholar]
  14. Matalon R., Dorfman A. Acid mucopolysaccharides in cultured human fibroblasts. Lancet. 1969 Oct 18;2(7625):838–841. doi: 10.1016/s0140-6736(69)92289-2. [DOI] [PubMed] [Google Scholar]
  15. Matalon R., Dorfman A., Nadler H. L., Jacobson C. B. A chemical method for the antenatal diagnosis of mucopolysaccharidoses. Lancet. 1970 Jan 10;1(7637):83–84. doi: 10.1016/s0140-6736(70)91869-6. [DOI] [PubMed] [Google Scholar]
  16. Merkatz I. R., New M. I., Peterson R. E., Seaman M. P. Prenatal diagnosis of adrenogenital syndrome by amniocentesis. J Pediatr. 1969 Dec;75(6):977–982. doi: 10.1016/s0022-3476(69)80334-3. [DOI] [PubMed] [Google Scholar]
  17. Milunsky A., Littlefield J. W., Kanfer J. N., Kolodny E. H., Shih V. E., Atkins L. Prenatal genetic diagnosis. I. N Engl J Med. 1970 Dec 17;283(25):1370–1381. doi: 10.1056/NEJM197012172832505. [DOI] [PubMed] [Google Scholar]
  18. Nadler H. L., Bigley R. H., Hug G. Prenatal detection of Pompe's disease. Lancet. 1970 Aug 15;2(7668):369–370. doi: 10.1016/s0140-6736(70)92908-9. [DOI] [PubMed] [Google Scholar]
  19. Nadler H. L., Egan T. J. Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder. N Engl J Med. 1970 Feb 5;282(6):302–307. doi: 10.1056/NEJM197002052820604. [DOI] [PubMed] [Google Scholar]
  20. Nadler H. L., Gerbie A. B. Enzymes in noncultured amniotic fluid cells. Am J Obstet Gynecol. 1969 Mar 1;103(5):710–712. doi: 10.1016/0002-9378(69)90567-5. [DOI] [PubMed] [Google Scholar]
  21. Nadler H. L., Messina A. M. In-utero detection of type-II glycogenosis (pompe's disease). Lancet. 1969 Dec 13;2(7633):1277–1278. doi: 10.1016/s0140-6736(69)90811-3. [DOI] [PubMed] [Google Scholar]
  22. Nadler H. L. Patterns of enzyme development utilizing cultivated human fetal cells derived from amniotic fluid. Biochem Genet. 1968 Sep;2(2):119–126. doi: 10.1007/BF01458711. [DOI] [PubMed] [Google Scholar]
  23. Nichols J. Antenatal diagnosis and treatment of the adrenogenital syndrome. Lancet. 1970 Jan 10;1(7637):83–83. doi: 10.1016/s0140-6736(70)91867-2. [DOI] [PubMed] [Google Scholar]
  24. Schneck L., Valenti C., Amsterdam D., Friedland J., Adachi M., Volk B. W. Prenatal diagnosis of Tay-Sachs disease. Lancet. 1970 Mar 21;1(7647):582–584. doi: 10.1016/s0140-6736(70)91624-7. [DOI] [PubMed] [Google Scholar]
  25. Schneider J. A., Rosenbloom F. M., Bradley K. H., Seegmiller J. E. Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Biochem Biophys Res Commun. 1967 Nov 30;29(4):527–531. doi: 10.1016/0006-291x(67)90516-5. [DOI] [PubMed] [Google Scholar]
  26. Schulman J. D., Fujimoto W. Y., Bradley K. H., Seegmiller J. E. Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report. J Pediatr. 1970 Sep;77(3):468–470. doi: 10.1016/s0022-3476(70)80020-8. [DOI] [PubMed] [Google Scholar]
  27. Shih V. E., Littlefield J. W. Argininosuccinase activity in amniotic-fluid cells. Lancet. 1970 Jul 4;2(7662):45–45. doi: 10.1016/s0140-6736(70)92509-2. [DOI] [PubMed] [Google Scholar]
  28. Stenbäck F., Ojala A. Histochemical properties of amniotic fluid cells. Acta Cytol. 1969 Jul;13(7):389–394. [PubMed] [Google Scholar]
  29. Uhlendorf B. W., Mudd S. H. Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science. 1968 May 31;160(3831):1007–1009. doi: 10.1126/science.160.3831.1007. [DOI] [PubMed] [Google Scholar]

Articles from Proceedings of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press

RESOURCES